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Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator
disorderSNOMED 297278001CUI C0268262
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased nerve conduction velocity
Always present (100%)HP:0000762
Elevated csf protein
Always present (100%)HP:0002922
Loss of ambulation
Always present (100%)HP:0002505
Mental and motor retardation
Always present (100%)HP:0001263
Muscle weakness
Always present (100%)HP:0001324
Peripheral demyelination
Always present (100%)HP:0011096
Peripheral hypotonia
Always present (100%)HP:0001252
Peripheral nerve disease
Always present (100%)HP:0001271
Peripheral neuropathy
Always present (100%)HP:0009830
Progressive degeneration of movement
Always present (100%)HP:0002333
Psychomotor regression
Always present (100%)HP:0002376
Abnormality of the periventricular white matter
HP:0002518
Deglutition disorder
HP:0002015
Demyelination in central white matter
HP:0007305
Difficulty articulating speech
HP:0001260
Epilepsy
HP:0001250
Extensor plantar responses
HP:0003487
Hyporeflexia
HP:0001265
Inability to coordinate movements when walking
HP:0002066
Increased reflexes
HP:0001347
Intellectual deterioration
HP:0001268
Loss of speech
HP:0002371
Spastic tetraparesis
HP:0001285
Urinary incontinence
HP:0000020
Related Conditions
Quick Facts
- SNOMED CT
- 297278001
- UMLS CUI
- C0268262
- Fully Specified Name
- Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.